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Sirolimus for the Treatment of Juvenile Polyposis in Childhood

Juvenile polyposis syndrome (JPS) is a rare disease with an autosomal dominant inheritance pattern characterized by the development of multiple hamartomatous polyps in the gastrointestinal tract. The most frequent signs and symptoms are recurrent abdominal pain, rectal bleeding, anemia, and iron def...

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Detalles Bibliográficos
Autores principales: Martín-Masot, Rafael, Cardelo Autero, Nerea, Ortiz Pérez, Pilar, Torcuato Rubio, Encarnación, Vázquez Pedreño, Luis, Gallego Fernández, Carmen, Blasco-Alonso, Javier, Navas-López, Víctor Manuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8389908/
https://www.ncbi.nlm.nih.gov/pubmed/34476273
http://dx.doi.org/10.14309/crj.0000000000000646
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author Martín-Masot, Rafael
Cardelo Autero, Nerea
Ortiz Pérez, Pilar
Torcuato Rubio, Encarnación
Vázquez Pedreño, Luis
Gallego Fernández, Carmen
Blasco-Alonso, Javier
Navas-López, Víctor Manuel
author_facet Martín-Masot, Rafael
Cardelo Autero, Nerea
Ortiz Pérez, Pilar
Torcuato Rubio, Encarnación
Vázquez Pedreño, Luis
Gallego Fernández, Carmen
Blasco-Alonso, Javier
Navas-López, Víctor Manuel
author_sort Martín-Masot, Rafael
collection PubMed
description Juvenile polyposis syndrome (JPS) is a rare disease with an autosomal dominant inheritance pattern characterized by the development of multiple hamartomatous polyps in the gastrointestinal tract. The most frequent signs and symptoms are recurrent abdominal pain, rectal bleeding, anemia, and iron deficiency. The treatment of JPS is symptomatic, requiring serial endoscopic polypectomies or intestinal resections in the most severe cases. We describe the clinical case of a patient with JPS with a childhood juvenile polyposis phenotype because of a mutation on the SMAD4 gene, who received treatment with sirolimus successfully.
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spelling pubmed-83899082021-09-01 Sirolimus for the Treatment of Juvenile Polyposis in Childhood Martín-Masot, Rafael Cardelo Autero, Nerea Ortiz Pérez, Pilar Torcuato Rubio, Encarnación Vázquez Pedreño, Luis Gallego Fernández, Carmen Blasco-Alonso, Javier Navas-López, Víctor Manuel ACG Case Rep J Case Report Juvenile polyposis syndrome (JPS) is a rare disease with an autosomal dominant inheritance pattern characterized by the development of multiple hamartomatous polyps in the gastrointestinal tract. The most frequent signs and symptoms are recurrent abdominal pain, rectal bleeding, anemia, and iron deficiency. The treatment of JPS is symptomatic, requiring serial endoscopic polypectomies or intestinal resections in the most severe cases. We describe the clinical case of a patient with JPS with a childhood juvenile polyposis phenotype because of a mutation on the SMAD4 gene, who received treatment with sirolimus successfully. Wolters Kluwer 2021-08-25 /pmc/articles/PMC8389908/ /pubmed/34476273 http://dx.doi.org/10.14309/crj.0000000000000646 Text en © 2021 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of The American College of Gastroenterology. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY) (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Martín-Masot, Rafael
Cardelo Autero, Nerea
Ortiz Pérez, Pilar
Torcuato Rubio, Encarnación
Vázquez Pedreño, Luis
Gallego Fernández, Carmen
Blasco-Alonso, Javier
Navas-López, Víctor Manuel
Sirolimus for the Treatment of Juvenile Polyposis in Childhood
title Sirolimus for the Treatment of Juvenile Polyposis in Childhood
title_full Sirolimus for the Treatment of Juvenile Polyposis in Childhood
title_fullStr Sirolimus for the Treatment of Juvenile Polyposis in Childhood
title_full_unstemmed Sirolimus for the Treatment of Juvenile Polyposis in Childhood
title_short Sirolimus for the Treatment of Juvenile Polyposis in Childhood
title_sort sirolimus for the treatment of juvenile polyposis in childhood
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8389908/
https://www.ncbi.nlm.nih.gov/pubmed/34476273
http://dx.doi.org/10.14309/crj.0000000000000646
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